ArticleInternational journal of cancer2019
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Article in International journal of cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 40 citations in OpenAlex.
- POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers.Acta oncologica (Stockholm, Sweden) · 2025Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- An overview of benefits and risks of chronic melanocortin-1 receptor activation.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Review
- Review
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Diagnostics ofDiagnostics (Basel, Switzerland) · 2022Article
- Perspectives for Combining Viral Oncolysis With Additional Immunotherapies for the Treatment of Melanoma.Frontiers in molecular biosciences · 2022Review
- Article
- Review
- Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.Journal of medical genetics · 2021Article
- A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Human mutation · 2021Article
- The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.Cancers · 2021Article
- Non-canonical roles of canonical telomere binding proteins in cancers.Cellular and molecular life sciences : CMLS · 2021Review
- Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization.Nature reviews. Molecular cell biology · 2021Review
- Multiple Primary Melanoma Incidence Trends Over Five Decades: A Nationwide Population-Based Study.Journal of the National Cancer Institute · 2021Article
- Disease risk scores for skin cancers.Nature communications · 2021Observational
- Role of POT1 in Human Cancer.Cancers · 2020Review
- Article
- It's Not All Sunshine: Non-sun-related Melanoma Risk-factors.Acta dermato-venereologica · 2020Review
- Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD,Cancers · 2020Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in the major melanoma susceptibility gene CDKN2A explain genetic predisposition in only 10-40% of melanoma-prone families. In our study we comprehensively characterized 488 melanoma cases from 451 non-CDKN2A/CDK4 families for mutations in 30 established and candidate melanoma susceptibility genes using a custom-designed targeted gene panel approach. We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p.E318K; diagnostic yield 4.0%). Among the three identified BAP1-families, there were no reported diagnoses of uveal melanoma or malignant mesothelioma. We additionally identified two potentially deleterious missense variants in the telomere maintenance genes ACD and TERF2IP, but none in the POT1 gene. MC1R risk variants were strongly enriched in our familial melanoma cohort compared to healthy controls (R variants: OR 3.67, 95% CI 2.88-4.68, p <0.001). Several variants of interest were also identified in candidate melanoma susceptibility genes, in particular rare (pathogenic) variants in the albinism gene OCA2 were repeatedly found. We conclude that multigene panel testing for familial melanoma is appropriate considering the additional 4% diagnostic yield in non-CDKN2A/CDK4 families. Our study shows that BAP1 and MITF are important genes to be included in such a diagnostic test.
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